The Genetics of Parkinson’s Disease

Yıl 2024, Cilt: 34 Sayı: 1, 136 - 143, 29.02.2024

Zeliha Yücel , Levent Şimşek , Emine Berrin Yüksel

https://doi.org/10.54005/geneltip.1337447

Öz

Parkinson's disease (PD) is one of the most common neurodegenerative diseases worldwide. Approximately 15% of PD patients have a family history of the disease in one or more first-degree relatives, and 5-10% of PD cases exhibit a classical Mendelian inheritance pattern. In 1997, the heritable transmission of PD was first documented. Recent studies have found 90 independent genome-wide signals at 78 loci that may be associated with PD. The identification of genes linked to PD and their functions has uncovered novel biological pathways and treatment options that play a role in the development of PD. In this article, it is aimed to review up-to-date information on the genetics of PD.

Anahtar Kelimeler

Parkinson’s Disease, Inheritance, Autosomal Dominant, Autosomal Recessive

Parkinson Hastalığı Genetiği

Öz

Parkinson hastalığı (PH), dünya çapında en yaygın nörodejeneratif hastalıklardan biridir. PH hastalarının yaklaşık %15'inde bir veya daha fazla birinci derece akrabada hastalık öyküsü vardır ve PH vakalarının %5-10'u klasik Mendel kalıtım modeli sergiler. 1997'de, PH'nın kalıtsal geçişi ilk kez belgelenmiştir. Son yapılan araştırmalarda, PD ile ilişkili olabilecek 78 lokusta 90 bağımsız genom çapında sinyal bulunmuştur. PH ile bağlantılı genlerin ve bunların işlevlerinin tanımlanması, PH gelişiminde rol oynayan yeni biyolojik yolları ve tedavi seçeneklerini ortaya çıkmasını sağlamıştır. Bu yazıda Parkinson hastalığının genetiği ile ilgili güncel bilgilerin gözden geçirilmesi amaçlanmıştır.

Anahtar Kelimeler

Parkinson Hastalığı, Kalıtım, Otozomal Dominant, Otozomal Resesif

Kaynakça

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